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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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CASE REPORT
Year : 2015  |  Volume : 22  |  Issue : 4  |  Page : 522-524

Achondroplasia and macular coloboma


Department of Ophthalmology, Tabriz University of Medical Sciences, Nikokari Eye Hospital, Tabriz, Iran

Correspondence Address:
R Sorkhabi
Department of Ophthalmology, Tabriz University of Medical Sciences, Nikokari Eye Hospital, Tabriz
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-9233.167819

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Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.


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